Canonical Allele Identifier: CA10069563
Gene: COL6A1 HGNC NCBI

Linked Data

dbSNP Id: rs761839666
ExAC: 21:47404380 TG / T
gnomAD v2: 21-47404380-TG-T
gnomAD v3: 21-45984466-TG-T
gnomAD v4: 21-45984466-TG-T
MyVariant Identifiers: chr21:g.47404381del (hg19) chr21:g.45984467del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984470del , CM000683.2:g.45984470del GRCh38
NC_000021.8:g.47404384del , CM000683.1:g.47404384del GRCh37
NC_000021.7:g.46228812del NCBI36
NG_008674.1:g.7722del , LRG_475:g.7722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.428+1del
ENST00000361866.7:c.428+1del
ENST00000612273.1:c.428+1del
NM_001848.2:c.428+1del , LRG_475t1:c.428+1del
NM_001848.3:c.428+1del
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